Coeliac disease Flashcards
What is coeliac disease and what causes it?
Coeliac disease is an autoimmune condition triggered by eating gluten. It is caused by a combination of genetic and environmental factors and is often associated with other autoimmune conditions like type 1 diabetes and thyroid disease.
What is the pathophysiology of coeliac disease?
In coeliac disease, the immune system produces autoantibodies against gluten, which target the epithelial cells of the small intestine, causing inflammation. This results in the atrophy of intestinal villi, leading to malabsorption. The main antibodies related to coeliac disease are:
* Anti-tissue transglutaminase antibodies (anti-TTG)
* Anti-endomysial antibodies (anti-EMA)
* Anti-deamidated gliadin peptide antibodies (anti-DGP)
What genetic factors are associated with coeliac disease?
Coeliac disease is associated with certain human leukocyte antigen (HLA) genotypes:
* HLA-DQ2
* HLA-DQ8
What are the common symptoms of coeliac disease?
Common symptoms include:
* Failure to thrive in young children
* Diarrhoea
* Bloating
* Fatigue
* Weight loss
* Mouth ulcers
Rare symptoms may include:
* Dermatitis herpetiformis
* Anaemia
* Neurological symptoms
What is dermatitis herpetiformis and how is it related to coeliac disease?
Dermatitis herpetiformis is an itchy, blistering skin rash typically affecting the knees, elbows, and natal cleft. It is strongly associated with coeliac disease.
What is the diagnostic approach for coeliac disease?
The patient must continue eating gluten while being investigated. First-line tests include:
* Total immunoglobulin A (IgA) levels
* Anti-tissue transglutaminase antibodies (anti-TTG)
Second-line tests include:
* Anti-endomysial antibodies (anti-EMA) if there is doubt or borderline results
If tests are positive, refer for endoscopy and jejunal biopsy.
What are typical biopsy findings in coeliac disease?
Typical biopsy findings include:
* Crypt hyperplasia
* Villous atrophy
Why is testing for total immunoglobulin A (IgA) important when diagnosing coeliac disease?
Testing for total IgA levels is important because if a patient has IgA deficiency, the IgA antibody tests may be negative, even if the patient has coeliac disease. In such cases, IgG versions of these antibodies can be tested.
What is the primary management for coeliac disease?
The primary management is a lifelong gluten-free diet, which typically resolves symptoms. Relapse can occur if gluten is consumed.
What complications can arise if coeliac disease is left untreated?
Complications can include:
* Nutritional deficiencies
* Anaemia
* Osteoporosis
* Hyposplenism
* Ulcerative jejunitis
* Enteropathy-associated T-cell lymphoma (EATL)
* Non-Hodgkin lymphoma
* Small bowel adenocarcinoma
